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WormBase Tree Display for Variation: WBVar00094674

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Name Class

WBVar00094674EvidencePaper_evidenceWBPaper00027609
NamePublic_nameor78
Other_nameCE34955:p.Ser374_Asn428del
R06B9.6.1:c.1120_1284del
HGVSgCHROMOSOME_II:g.13747866_13748030del
Sequence_detailsSMapS_parentSequenceR06B9
Flanking_sequencescgcggaatccagctctacgatcctttctaccgacggcttaaagtggagggagtgatctac
Mapping_targetR06B9
Type_of_mutationDeletion
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00007272
LaboratoryEU
StatusLive
AffectsGeneWBGene00305552
WBGene00003246
TranscriptR06B9.7
R06B9.6.1VEP_consequenceinframe_deletion
VEP_impactMODERATE
HGVScR06B9.6.1:c.1120_1284del
HGVSpCE34955:p.Ser374_Asn428del
cDNA_position1134-1298
CDS_position1120-1284
Protein_position374-428
Exon_number9/11
Codon_changeAGTGTCTGGTCATCACCGACAGGCTCACAGATCGCCTATTTCGCGATTTTCATCTCCGCCATCAGCACCGTCGCCTATTTTATTTTTCTTTTCTTCAAAATCGCCAGGGTTTGGAGCACAATCAAGAGCAAACGGAGTGCTCAAATCTATCAAACGAGCGAAAAT/-
Amino_acid_changeSVWSSPTGSQIAYFAIFISAISTVAYFIFLFFKIARVWSTIKSKRSAQIYQTSEN/-
GeneticsInterpolated_map_positionII20.2561
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RemarkData not shownPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
PenetranceHighPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
WBPhenotype:0000038Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RemarkData not shownPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
WBPhenotype:0000052Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
PenetranceComplete100 percentPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
Maternal
WBPhenotype:0000643Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RemarkData not shownPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
WBPhenotype:0000697Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RemarkData not shownPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
WBPhenotype:0000760Paper_evidenceWBPaper00002870
WBPaper00003645
Curator_confirmedWBPerson2021
WBPerson2987
RemarkABar divides roughly parallel (instead of orthogonal) to the other AB descendants in mom mutantsPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
In mom-3/mig-14(or78) mutants, the EMS cell exhibited spindle orientation defects, with significant dorsal/ventral or left/right orientation components, in contrast to the normally anterior/posterior orientation of the wild type EMS spindle (Figure 1C).Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
In EMS cells derived from isolated P1 blastomeres from mom-3/mig-14(or78) mutants, spindles exhibited orientation defects, with a wide range of orientation angles, showing nearly random orientations (Figure 1D, 2).Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
In EMS blastomeres isolated from wild type embryos and placed in contact with isolated mom-3/mig-14(or78) mutant P2 blastomeres, EMS spindles exhibited orientation defects suggesting that mom-3 is required in P2 for proper EMS spindle orientation (Figure 4A).Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
PenetranceComplete100 percentPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006411PATO:0000460Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
WBbt:0006876PATO:0000460Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
WBbt:0006873PATO:0000460Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00002870
WBPaper00003645
Curator_confirmedWBPerson2021
WBPerson2987
WBls:0000008PATO:0000460Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
WBls:0000071PATO:0000460Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
Maternal
Phenotype_assayTreatmentAuthors isolated the smaller, posterior-most blastomere in a two-cell-stage embryo, called P1, and allowed it to divide into its daughters, P2 and EMS. The orientation of the mitotic spindle in EMS was then measured relative to the plane of contact between EMS and P2.Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
For genetically mosaic partial embryos, wild-type and mutant early EMS and P2 blastomeres were concurrently isolated. EMS and P2 were recombined early in the EMS cell cycle allowing the cells to be in contact for at least 9 min before EMS cytokinesis.Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
WBPhenotype:0001635Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RemarkMutant embryos make large amounts of pharynxPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
Maternal
Phenotype_assayTreatmentstaining with 9.2.1 antibody (stains pharyngeal-specific muscle cells)Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
Temperature20CPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
WBPhenotype:0001637Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RemarkMost mutant embryos entirely lack intestinal cellsPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
PenetranceIncomplete65 percentPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
Maternal
Phenotype_assayTreatmentIntact embryos were examined by scoring intestinal birefringencePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
Temperature20CPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
Phenotype_not_observedWBPhenotype:0000760Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
RemarkIn EMS blastomeres isolated from mom-3/mig-14(or78) mutant embryos and placed in contact with isolated wild type P2 blastomeres, EMS spindles exhibited wild type orientation suggesting that mom-3 is dispensable in EMS for proper EMS spindle orientation (Figure 4A).Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006876PATO:0000460Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
WBbt:0006873PATO:0000460Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFor genetically mosaic partial embryos, wild-type and mutant early EMS and P2 blastomeres were concurrently isolated. EMS and P2 were recombined early in the EMS cell cycle allowing the cells to be in contact for at least 9 min before EMS cytokinesis.Paper_evidenceWBPaper00003645
Curator_confirmedWBPerson2987
WBPhenotype:0001302Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RemarkP granule localization is normalPaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentstaining with OIC1D4 monoclonal antibody (stains P granules)Paper_evidenceWBPaper00002870
Curator_confirmedWBPerson2021
ReferenceWBPaper00003645
WBPaper00002870
WBPaper00027609
MethodDeletion_allele